Incidental Mutation 'R6305:Bcl9'
ID |
509578 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bcl9
|
Ensembl Gene |
ENSMUSG00000038256 |
Gene Name |
B cell CLL/lymphoma 9 |
Synonyms |
2610202E01Rik, A330041G23Rik, 8030475K17Rik |
MMRRC Submission |
044411-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.931)
|
Stock # |
R6305 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
97110978-97205233 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 97113254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 1067
(P1067L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131692
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046521]
[ENSMUST00000166341]
|
AlphaFold |
Q9D219 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046521
AA Change: P1067L
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000046152 Gene: ENSMUSG00000038256 AA Change: P1067L
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
63 |
N/A |
INTRINSIC |
low complexity region
|
86 |
98 |
N/A |
INTRINSIC |
low complexity region
|
144 |
157 |
N/A |
INTRINSIC |
PDB:2VP7|B
|
174 |
205 |
4e-13 |
PDB |
low complexity region
|
229 |
247 |
N/A |
INTRINSIC |
low complexity region
|
255 |
273 |
N/A |
INTRINSIC |
low complexity region
|
321 |
342 |
N/A |
INTRINSIC |
Pfam:BCL9
|
350 |
389 |
3.1e-24 |
PFAM |
low complexity region
|
481 |
494 |
N/A |
INTRINSIC |
low complexity region
|
506 |
517 |
N/A |
INTRINSIC |
low complexity region
|
817 |
835 |
N/A |
INTRINSIC |
low complexity region
|
891 |
902 |
N/A |
INTRINSIC |
low complexity region
|
985 |
1001 |
N/A |
INTRINSIC |
low complexity region
|
1032 |
1044 |
N/A |
INTRINSIC |
low complexity region
|
1135 |
1153 |
N/A |
INTRINSIC |
low complexity region
|
1156 |
1177 |
N/A |
INTRINSIC |
low complexity region
|
1257 |
1268 |
N/A |
INTRINSIC |
low complexity region
|
1281 |
1299 |
N/A |
INTRINSIC |
low complexity region
|
1371 |
1391 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132266
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166341
AA Change: P1067L
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000131692 Gene: ENSMUSG00000038256 AA Change: P1067L
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
63 |
N/A |
INTRINSIC |
low complexity region
|
86 |
98 |
N/A |
INTRINSIC |
low complexity region
|
144 |
157 |
N/A |
INTRINSIC |
PDB:2VP7|B
|
174 |
205 |
4e-13 |
PDB |
low complexity region
|
229 |
247 |
N/A |
INTRINSIC |
low complexity region
|
255 |
273 |
N/A |
INTRINSIC |
low complexity region
|
321 |
342 |
N/A |
INTRINSIC |
Pfam:BCL9
|
350 |
388 |
5.2e-22 |
PFAM |
low complexity region
|
481 |
494 |
N/A |
INTRINSIC |
low complexity region
|
506 |
517 |
N/A |
INTRINSIC |
low complexity region
|
817 |
835 |
N/A |
INTRINSIC |
low complexity region
|
891 |
902 |
N/A |
INTRINSIC |
low complexity region
|
985 |
1001 |
N/A |
INTRINSIC |
low complexity region
|
1032 |
1044 |
N/A |
INTRINSIC |
low complexity region
|
1135 |
1153 |
N/A |
INTRINSIC |
low complexity region
|
1156 |
1177 |
N/A |
INTRINSIC |
low complexity region
|
1257 |
1268 |
N/A |
INTRINSIC |
low complexity region
|
1281 |
1299 |
N/A |
INTRINSIC |
low complexity region
|
1371 |
1391 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
97% (61/63) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice carrying homozygous floxed Bcl9 and Bcl9l alleles, inactivated in muscle cells, exhibit impaired muscle regeneration due to increased apoptosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,773,741 (GRCm39) |
S977P |
probably damaging |
Het |
Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
Adcy6 |
T |
A |
15: 98,496,526 (GRCm39) |
I550L |
probably benign |
Het |
Agbl3 |
G |
A |
6: 34,759,145 (GRCm39) |
D19N |
unknown |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Arhgap39 |
T |
A |
15: 76,621,902 (GRCm39) |
D233V |
probably benign |
Het |
Casd1 |
C |
T |
6: 4,641,892 (GRCm39) |
T723I |
probably damaging |
Het |
Cd209g |
T |
A |
8: 4,186,809 (GRCm39) |
I118N |
probably benign |
Het |
Cdh24 |
A |
T |
14: 54,869,813 (GRCm39) |
D701E |
possibly damaging |
Het |
Chd9 |
C |
T |
8: 91,757,174 (GRCm39) |
P1858S |
possibly damaging |
Het |
Csnk1g3 |
T |
A |
18: 54,065,384 (GRCm39) |
Y322* |
probably null |
Het |
Cyp2f2 |
G |
A |
7: 26,828,649 (GRCm39) |
R173H |
probably damaging |
Het |
D130043K22Rik |
T |
C |
13: 25,069,668 (GRCm39) |
F909S |
probably damaging |
Het |
Dll4 |
T |
A |
2: 119,161,138 (GRCm39) |
S299T |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dsg4 |
T |
A |
18: 20,582,847 (GRCm39) |
Y162N |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,517,780 (GRCm39) |
Y882C |
probably damaging |
Het |
Fbxw7 |
T |
A |
3: 84,883,630 (GRCm39) |
N520K |
probably damaging |
Het |
Galc |
C |
T |
12: 98,225,549 (GRCm39) |
A14T |
possibly damaging |
Het |
Grm7 |
G |
A |
6: 111,335,626 (GRCm39) |
R679Q |
probably damaging |
Het |
Hnrnpdl |
T |
C |
5: 100,186,517 (GRCm39) |
|
probably benign |
Het |
Il12a |
A |
T |
3: 68,601,511 (GRCm39) |
K77N |
possibly damaging |
Het |
Il17rd |
C |
T |
14: 26,817,899 (GRCm39) |
S196L |
possibly damaging |
Het |
Kcnv2 |
T |
C |
19: 27,301,237 (GRCm39) |
F363L |
probably benign |
Het |
Lair1 |
A |
G |
7: 4,013,727 (GRCm39) |
|
probably null |
Het |
Lrit3 |
G |
A |
3: 129,594,109 (GRCm39) |
T156I |
probably damaging |
Het |
Me2 |
T |
A |
18: 73,924,915 (GRCm39) |
R267S |
probably benign |
Het |
Mga |
T |
C |
2: 119,778,179 (GRCm39) |
V1908A |
probably benign |
Het |
Mylk3 |
T |
A |
8: 86,077,048 (GRCm39) |
I463F |
probably damaging |
Het |
Neb |
G |
A |
2: 52,141,775 (GRCm39) |
R75* |
probably null |
Het |
Niban1 |
T |
C |
1: 151,571,469 (GRCm39) |
L248P |
probably damaging |
Het |
Or10a3b |
C |
T |
7: 108,444,761 (GRCm39) |
G152D |
possibly damaging |
Het |
Or1j11 |
T |
A |
2: 36,311,634 (GRCm39) |
S75T |
probably damaging |
Het |
Or5p50 |
T |
G |
7: 107,421,864 (GRCm39) |
T271P |
probably benign |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Or8b36 |
TG |
TGGTGTTGG |
9: 37,937,838 (GRCm39) |
|
probably null |
Het |
Or8k33 |
A |
G |
2: 86,383,839 (GRCm39) |
S210P |
possibly damaging |
Het |
Pfas |
A |
G |
11: 68,892,023 (GRCm39) |
S162P |
possibly damaging |
Het |
Pip5k1c |
T |
A |
10: 81,151,768 (GRCm39) |
V654E |
probably benign |
Het |
Plxdc1 |
C |
A |
11: 97,829,416 (GRCm39) |
C318F |
probably damaging |
Het |
Qrfprl |
A |
T |
6: 65,431,975 (GRCm39) |
M293L |
probably benign |
Het |
Rbm8a2 |
T |
C |
1: 175,806,312 (GRCm39) |
D55G |
probably benign |
Het |
Rexo5 |
A |
T |
7: 119,427,348 (GRCm39) |
K419N |
probably damaging |
Het |
Septin4 |
C |
T |
11: 87,458,145 (GRCm39) |
T173M |
probably benign |
Het |
Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
Slc24a4 |
C |
A |
12: 102,188,360 (GRCm39) |
T151K |
possibly damaging |
Het |
Slc6a15 |
A |
T |
10: 103,225,031 (GRCm39) |
I40F |
probably benign |
Het |
Slc6a21 |
T |
C |
7: 44,930,028 (GRCm39) |
V172A |
possibly damaging |
Het |
Thrap3 |
A |
G |
4: 126,074,600 (GRCm39) |
|
probably benign |
Het |
Tm9sf3 |
A |
G |
19: 41,233,881 (GRCm39) |
|
probably null |
Het |
Trp53 |
A |
T |
11: 69,479,533 (GRCm39) |
H211L |
probably damaging |
Het |
Ttc21b |
A |
T |
2: 66,018,614 (GRCm39) |
N1264K |
probably damaging |
Het |
Vmn1r120 |
A |
T |
7: 20,787,531 (GRCm39) |
V60E |
possibly damaging |
Het |
Ylpm1 |
A |
G |
12: 85,077,319 (GRCm39) |
E890G |
probably damaging |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zfp934 |
T |
C |
13: 62,666,370 (GRCm39) |
Y102C |
probably damaging |
Het |
|
Other mutations in Bcl9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00553:Bcl9
|
APN |
3 |
97,114,518 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00817:Bcl9
|
APN |
3 |
97,112,460 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01609:Bcl9
|
APN |
3 |
97,116,291 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02245:Bcl9
|
APN |
3 |
97,116,009 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02385:Bcl9
|
APN |
3 |
97,116,594 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02534:Bcl9
|
APN |
3 |
97,122,545 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02663:Bcl9
|
APN |
3 |
97,112,648 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02705:Bcl9
|
APN |
3 |
97,112,181 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02884:Bcl9
|
APN |
3 |
97,117,368 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03345:Bcl9
|
APN |
3 |
97,116,508 (GRCm39) |
missense |
probably benign |
|
R0312:Bcl9
|
UTSW |
3 |
97,116,727 (GRCm39) |
missense |
probably benign |
0.27 |
R0602:Bcl9
|
UTSW |
3 |
97,113,102 (GRCm39) |
missense |
probably benign |
0.00 |
R0627:Bcl9
|
UTSW |
3 |
97,112,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R0644:Bcl9
|
UTSW |
3 |
97,117,813 (GRCm39) |
missense |
probably benign |
|
R1342:Bcl9
|
UTSW |
3 |
97,113,042 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1836:Bcl9
|
UTSW |
3 |
97,113,186 (GRCm39) |
missense |
probably damaging |
0.97 |
R1886:Bcl9
|
UTSW |
3 |
97,122,713 (GRCm39) |
missense |
probably benign |
0.04 |
R1931:Bcl9
|
UTSW |
3 |
97,112,460 (GRCm39) |
missense |
probably damaging |
0.97 |
R1972:Bcl9
|
UTSW |
3 |
97,114,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R1984:Bcl9
|
UTSW |
3 |
97,121,050 (GRCm39) |
missense |
probably damaging |
0.98 |
R2119:Bcl9
|
UTSW |
3 |
97,116,231 (GRCm39) |
missense |
probably benign |
0.04 |
R2924:Bcl9
|
UTSW |
3 |
97,117,069 (GRCm39) |
missense |
probably benign |
0.00 |
R3081:Bcl9
|
UTSW |
3 |
97,112,989 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3851:Bcl9
|
UTSW |
3 |
97,116,969 (GRCm39) |
missense |
probably damaging |
0.99 |
R4182:Bcl9
|
UTSW |
3 |
97,120,999 (GRCm39) |
critical splice donor site |
probably null |
|
R4196:Bcl9
|
UTSW |
3 |
97,123,684 (GRCm39) |
utr 5 prime |
probably benign |
|
R4209:Bcl9
|
UTSW |
3 |
97,117,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R5082:Bcl9
|
UTSW |
3 |
97,117,218 (GRCm39) |
missense |
probably damaging |
0.97 |
R5440:Bcl9
|
UTSW |
3 |
97,117,881 (GRCm39) |
missense |
probably benign |
|
R5770:Bcl9
|
UTSW |
3 |
97,122,491 (GRCm39) |
missense |
probably benign |
|
R5863:Bcl9
|
UTSW |
3 |
97,117,666 (GRCm39) |
missense |
probably benign |
|
R5891:Bcl9
|
UTSW |
3 |
97,116,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R6086:Bcl9
|
UTSW |
3 |
97,112,840 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6626:Bcl9
|
UTSW |
3 |
97,122,712 (GRCm39) |
missense |
probably benign |
0.00 |
R7198:Bcl9
|
UTSW |
3 |
97,116,183 (GRCm39) |
missense |
probably damaging |
0.99 |
R7198:Bcl9
|
UTSW |
3 |
97,112,511 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7548:Bcl9
|
UTSW |
3 |
97,113,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R7897:Bcl9
|
UTSW |
3 |
97,112,567 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8299:Bcl9
|
UTSW |
3 |
97,112,852 (GRCm39) |
missense |
probably damaging |
0.97 |
R8332:Bcl9
|
UTSW |
3 |
97,117,086 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8519:Bcl9
|
UTSW |
3 |
97,116,334 (GRCm39) |
missense |
probably benign |
|
R9057:Bcl9
|
UTSW |
3 |
97,112,306 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9079:Bcl9
|
UTSW |
3 |
97,112,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R9273:Bcl9
|
UTSW |
3 |
97,115,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R9367:Bcl9
|
UTSW |
3 |
97,117,861 (GRCm39) |
missense |
probably benign |
0.22 |
R9399:Bcl9
|
UTSW |
3 |
97,113,289 (GRCm39) |
missense |
probably benign |
0.00 |
R9597:Bcl9
|
UTSW |
3 |
97,117,323 (GRCm39) |
missense |
probably benign |
0.01 |
R9643:Bcl9
|
UTSW |
3 |
97,112,960 (GRCm39) |
missense |
possibly damaging |
0.77 |
X0011:Bcl9
|
UTSW |
3 |
97,113,290 (GRCm39) |
missense |
probably benign |
0.05 |
Z1088:Bcl9
|
UTSW |
3 |
97,117,957 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGGTACCATTGGAGGCTC -3'
(R):5'- ACTGTGTGCCTCCAAGAGTG -3'
Sequencing Primer
(F):5'- TACCATTGGAGGCTCCTGGG -3'
(R):5'- GTCACAAACTTTTGGTGACAGCG -3'
|
Posted On |
2018-04-02 |